RGD:12841871 Rat Genome Database

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Variant: RGD:12841871 -  Homo sapiens

RGD ID: 12841871
RS ID: rs137852883
ClinVar ID: CV371735
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 1,719,308
GRCh38 8 1,771,142
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018941.3:c.88G>A
NP_061764.2:p.Ala30Thr
LRG_691t1:c.88G>A
LRG_691:g.20365G>A
More...
01/13/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CLN8
Accession:NM_018941
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVTGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_005266022
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVTGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_005266023
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVTGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_005266021
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVTGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_011534747
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVTGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKETGSLERKNKHNKSLLPSGSRWVDDISPSKVHCSVNSTDCSCITTMDTSRVSDTVLAPG
NSRRNLCSWCPLRLAPSGTRWGV*

Gene Symbol:CLN8
Accession:XM_011534745
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVTGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_011534746
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVTGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_047421512
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVTGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP*

Gene Symbol:CLN8
Accession:XM_047421513
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPASDGGTSESIFDLDYASWGIRSTLMVTGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAA
GLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLA
MTTLLLEMSTPFTCVSWMLLKETGSLERKNKHNKSLLPSGSRWVDDISPSKVHCSVNSTDCSCITTMDTSRVSDTVLAPG
NSRRNLCSWCPLRLAPSGTRWGV*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000433355 CLINVAR
dbSNP (RS) rs137852883 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CLN8 CLINVAR
OMIM 607837 CLINVAR